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Contributor

Daniil Munblit

Diagnosis

methylmalonic acidemia nutritional deficiency acrodermatitis enteropathica

Body Site

buttock

Age

9 months

Pigmentation

light

Organization

discrete confluent

Color

red

Morphology

papule

Pattern

symmetric periorificial

Comments

This 9-month-old firl with methylmalonic acidemia developed a skin eruption resembling acrodermatitis enteropathica while on a low-protein diet limited in branched-chain amino acids. A deficiency in plasma levels of essential amino acids, particularly isoleucine, was confirmed. Supplementation of the diet with isoleucine led to a prompt improvement of the skin lesions.

Description

symmetric discrete and confluent periorificial red papules, crusts and erosions

Categories

genodermatosis/genetic disorder nutritional deficiency

Image Added

11/22/2009 14:49:33

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Other Resources

PubMed Medline Plus Medscape

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